Col11a1
Gene Detail

Symbol Name ID

Col11a1 collagen, type XI, alpha 1 MGI:88446

Synonyms

C530001D20Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 3

49.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr3:114030540-114220718 bp, + strand From VEGA annotation of GRCm38   190179 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:56389  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col11a1

Human homologs

Human Homolog		COL11A1, collagen, type XI, alpha 1
NCBI Gene ID		1301
neXtProt AC		NX_P12107
Human Synonyms		CO11A1, COLL6, STL2
Human Chr (Location)		1p21; chr1:103342023-103574052 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human COL11A1

Alleles and phenotypes

All alleles(2) : Targeted(1) Spontaneous(1)
 

Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.

 
Human Diseases Modeled Using Mouse Col11a1 (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	cartilage condensation, cartilage development, ...
Component	collagen, collagen type XI, ...
Function	extracellular matrix structural constituent, metal ion binding

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (21 records)
Data Summary: Results (236)    Tissues (61)    Images (38)
Theiler Stages: 10, 18, 20, 21, 22, 23, 24, 25, 26

Assay Type	Results
RNA in situ	199
Northern blot	14
RT-PCR	23

cDNA source data(103)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(108) Genomic(2) cDNA(103) Primer pair(3)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000022509 (Evidence)
Ensembl Gene Model	ENSMUSG00000027966 (Evidence)
Entrez Gene	12814 (Evidence)
UniGene	209715
DFCI	TC1579972, TC1601321, TC1604972, TC1626944, TC1658686, TC1713954
DoTS	DT.101206112, DT.101704553, DT.40163431, DT.91333052, DT.94135163
NIA Mouse Gene Index	U003761
Consensus CDS Project	CCDS17778.1
International Mouse Knockout Project Status	Col11a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022509	VEGA Gene Model | MGI Sequence Detail	190179	C57BL/6J
transcript	OTTMUST00000053888	VEGA | MGI Sequence Detail	7667	Not Applicable
polypeptide	OTTMUSP00000025652	VEGA | MGI Sequence Detail	1804	Not Applicable

All sequences(57) RefSeq(2) UniProt(8)

Polymorphisms

PCR(1) : SNPs(1298 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008160	Collagen triple helix repeat
InterPro	IPR008985	Concanavalin A-like lectin/glucanases superfamily
InterPro	IPR013320	Concanavalin A-like lectin/glucanase, subgroup
InterPro	IPR000885	Fibrillar collagen, C-terminal
InterPro	IPR001791	Laminin G domain
Protein Ontology	PR:000005694	collagen alpha-1(XI) chain

References

(Earliest) J:24730 Seegmiller R, Chondrodysplasia - an autosomal recessive mutation. Mouse News Lett. 1969;40:38
(Latest) J:176308 Xu L, et al., Intact pericellular matrix of articular cartilage is required for unactivated discoidin domain receptor 2 in the mouse model. Am J Pathol. 2011 Sep;179(3):1338-46
All references(68)

Other accession IDs

MGD-MRK-1972, MGD-MRK-2053, MGI:1924905